RMRP

Red RMRP in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10

Sources

• Expert Review Red
• Other

Phenotypes

• Cartilage-hair hypoplasia (MIM:250250) with Hirschsprung disease

Red RMRP in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16

Sources

• Expert Review Red
• Curated sources
• Expert Review Red

Phenotypes

• Class: miscellaneous
• Cartilage-hair hypoplasia syndrome
• Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia

Green RMRP in COVID-19 research

Level 2: Viral research
Version 1.141

Sources

• IUIS Classification February 2018
• London North GLH
• GOSH PID v.8.0
• NHS GMS
• GRID V2.0
• Victorian Clinical Genetics Services
• North West GLH
• ESID Registry 20171117
• Combined B and T cell defect v1.12
• Expert Review Green
• NHS GMS
• North West GLH
• London North GLH
• IUIS Classification February 2018
• Victorian Clinical Genetics Services
• Expert Review Green
• ESID Registry 20171117
• GRID V2.0
• GOSH PID v.8.0
• Combined B and T cell defect v1.12

Phenotypes

• Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine
• Cartilage hair hypoplasia
• Cartilage-hair hypoplasia
• Anauxetic dysplasia 1, 232220
• Omenn syndrome
• Cartilage-hair hypoplasia, with or without immunodeficiency
• Combined immunodeficiencies with associated or syndromic features

Green RMRP in Ectodermal dysplasia

Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green

Phenotypes

• Cartilage-hair hypoplasia 250250

Green RMRP in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.28

Sources

• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Expert Review

Phenotypes

• Cartilage-hair hypoplasia 250250

Tags

• locus-type-rna-misc

Green RMRP in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Other
• NHS GMS
• North West GLH
• London North GLH
• IUIS Classification February 2018
• Victorian Clinical Genetics Services
• ESID Registry 20171117
• GRID V2.0
• GOSH PID v.8.0
• Combined B and T cell defect v1.12

Phenotypes

• Anauxetic dysplasia 1, 232220
• Cartilage-hair hypoplasia, with or without immunodeficiency
• Cartilage-hair hypoplasia
• Omenn syndrome
• Cartilage hair hypoplasia
• Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine
• Combined immunodeficiencies with associated or syndromic features

Tags

• locus-type-rna-ribosomal

Green RMRP in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

Sources

• Expert Review Green
• BRIDGE consortium (NIHRBR-RD)

Phenotypes

• Severe congenital neutropenia
• Cartilage-hair hypoplasia

Green RMRP in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Curated sources

Phenotypes

• Class: miscellaneous
• Cartilage-hair hypoplasia syndrome
• Non-hodgkin lymphoma Squamous carcinoma (bcc) Leukemia

Green RMRP in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Expert list
• UKGTN
• Radboud University Medical Center, Nijmegen

Phenotypes

• Cartilage-hair hypoplasia 250250
• Anauxetic dysplasia 607095
• Metaphyseal dysplasia without hypotrichosis 250460

Tags

• locus-type-rna-misc

Green RMRP in Cytopenia - NOT Fanconi anaemia

Version 3.32
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• North West GLH
• London South GLH
• NHS GMS
• Wessex and West Midlands GLH

Phenotypes

• Cartilage-hair hypoplasia
• 250250 Cartilage-hair hypoplasia
• Severe congenital neutropenia

Green RMRP in Fetal anomalies

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• CARTILAGE-HAIR HYPOPLASIA

Green RMRP in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• CARTILAGE-HAIR HYPOPLASIA 250250

Amber RMRP in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Cartilage-hair hypoplasia, 250250
• Metaphyseal dysplasia without
• hypotrichosis, 250460
• Anauxetic dysplasia, 607095

Green RMRP in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Cartilage-hair hypoplasia, 250250
• Anauxetic dysplasia 1, 607095
• Metaphyseal dysplasia without hypotrichosis, 250460